ClinVar Miner

Submissions for variant NM_152490.5(B3GALNT2):c.1312-16T>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002589475 SCV002945329 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2022-07-10 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with B3GALNT2-related conditions. This sequence change falls in intron 10 of the B3GALNT2 gene. It does not directly change the encoded amino acid sequence of the B3GALNT2 protein. This variant is not present in population databases (gnomAD no frequency). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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